Abstract

Study of DNA copy-number variation is a key part of cancer genomics. With the help of a comprehensive multistep computational procedure described here, copy-number profiles of tumor tissues or individual tumor cells may be generated and interpreted, starting with data acquired by next-generation sequencing. Several of the methods presented are specifically designed to handle cancer-related copy-number profiles. These include accounting for variation of ploidy and distilling somatic copy number alterations from the inherited background.